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Gene: Neurl4 MGI:1921092

Gene Summary

Name:

neuralized E3 ubiquitin protein ligase 4

Synonyms:

0610025P10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal spleen morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
eye hemorrhage	Neurl4^em1(IMPC)Mbp	HOM	Late adult	5.37×10^-06
decreased heart weight	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.55×10^-05
small kidney	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged gallbladder	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
absent seminal vesicle	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.44×10^-06
abnormal eye morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
small spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased lean body mass	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.27×10^-06
decreased neutrophil cell number	Neurl4^em1(IMPC)Mbp	HOM	Early adult	5.23×10^-05
abnormal gallbladder morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased leukocyte cell number	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.43×10^-05
enlarged spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Neurl4^em1(IMPC)Mbp	HOM	Early adult	0.00
increased grip strength	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.30×10^-06
abnormal skin morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Neurl4^em1(IMPC)Mbp	HOM	Middle aged adult	4.89×10^-07
decreased total body fat amount	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-06
abnormal kidney morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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Human diseases caused by Neurl4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Neurl4 (0 diseases)
Human diseases predicted to be associated with Neurl4 (715 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Neurl4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ...	ORPHA:3002
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedulla...	OMIM:615285
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys...	ORPHA:464329
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis...	OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co...	OMIM:600803
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Immunodeficiency 53	Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Gaucher Disease Type 1	Ascites, Leukopenia, Splenomegaly, Abnormal bleeding, Pancytopenia, Splenic infarction, Portal hy...	ORPHA:77259
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,...	ORPHA:99827
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnor...	ORPHA:79301
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati...	ORPHA:494444
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis	ORPHA:79278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells	OMIM:613501
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Sickle Cell Anemia	Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Isolated Biliary Atresia	Decreased liver function, Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Elevated...	ORPHA:30391
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Lymphopenia, Neutropenia	OMIM:604250
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility	ORPHA:721
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Myotonic Dystrophy 1	Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, First degree atrioventricular ...	OMIM:160900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Sialuria	Prolonged prothrombin time, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:3166
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Reticulocytosis, Reduced ery...	OMIM:232800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Elevated circulating hepatic transaminase concentration, Bradycardia, Oligu...	ORPHA:319213
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Hypereosinophilia, Ne...	OMIM:615387
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria...	OMIM:105200
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card...	OMIM:618775
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fulminant hepatitis...	OMIM:308240
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Neoplasm of ...	ORPHA:171
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ...	OMIM:613812
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr...	OMIM:602390
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Neutr...	OMIM:618752
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Splenomegaly	ORPHA:796
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:340
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Bradycardia,...	ORPHA:99826
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Cholelithiasis, Hypertrophic cardiomyopathy, Sev...	OMIM:620646
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Renal tubular dysfunctio...	OMIM:614886
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Ascites...	ORPHA:464321
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia	ORPHA:238459
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD...	OMIM:150550
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Cellulitis, Leukopenia, Hepatosplenomegaly, L...	OMIM:618986
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ...	OMIM:619463
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia...	ORPHA:294
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly...	ORPHA:108
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,...	OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female hypogonadism, Neph...	OMIM:240300
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Arrhythmia	ORPHA:171876
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Multicystic kidney dyspl...	ORPHA:3032
Pentalogy Of Cantrell	Hypospadias, Abnormal pericardium morphology, Tetralogy of Fallot, Absent gallbladder, Atrial sep...	ORPHA:1335
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocy...	ORPHA:98850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski...	OMIM:617718
Specific Granule Deficiency 2	Amelogenesis imperfecta, Anemia, Failure to thrive, Thrombocytopenia, Absent neutrophil specific ...	OMIM:617475
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Meckel Syndrome, Type 6	Abnormal internal genitalia, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent ga...	OMIM:612284
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Umbi...	OMIM:169400
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Distal Duplication 5Q	Hypospadias, Dextrocardia, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the g...	ORPHA:96097
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Pe...	ORPHA:509
Stormorken Syndrome	Abnormal bleeding, Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thromboc...	OMIM:185070
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Immunodeficiency 102	Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De...	OMIM:301082
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Sple...	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Mirage Syndrome	Anemia, Hypospadias, Petechiae, Microphallus, Decreased testicular size, Hypergonadotropic hypogo...	OMIM:617053
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Hydronephrosis,...	ORPHA:96092
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Meckel Syndrome, Type 7	Situs inversus totalis, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal hype...	OMIM:267010
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae...	ORPHA:824
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Lymphopenia, E...	ORPHA:486
Whim Syndrome 1	Neutropenia	OMIM:193670
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly,...	OMIM:616589
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, ...	OMIM:301078
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytopenia, Coombs-posi...	OMIM:304790
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Abnormal platelet mor...	ORPHA:3318
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Gaucher Disease	Leukopenia, Splenomegaly, Abnormal bleeding, Pancytopenia, Splenic infarction, Pulmonary arterial...	ORPHA:355
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Ppoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97278
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transamina...	ORPHA:507
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Grfoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97261
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	OMIM:619220
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
X-Linked Agammaglobulinemia	Anemia, Failure to thrive, Thrombocytopenia, Weight loss, Recurrent cutaneous abscess formation, ...	ORPHA:47
Disabling Pansclerotic Morphea Of Childhood	Joint contracture, Neutropenia, Lymphopenia	OMIM:620443
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cryptorchidism, Micropenis, Cholelithiasis	OMIM:300534
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Nasal mucosa telangiec...	ORPHA:774
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde...	OMIM:615710
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism, Cholelithiasis	OMIM:619273
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Propionic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:606054
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute...	OMIM:601186
Autosomal Agammaglobulinemia	Failure to thrive, Cellulitis, Hepatitis, Neutropenia	ORPHA:33110
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, E...	OMIM:607330
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Megaloblastic anemia, Jaundice, Neutropenia	OMIM:250940
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Fatigable weakness of skeletal muscles, Abnormal proportion o...	ORPHA:101096
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica...	ORPHA:2072
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato...	ORPHA:1667
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Abnormal bleeding, Cholelithiasis, Acute promy...	ORPHA:77293
Felty Syndrome	Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Weight loss...	ORPHA:47612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Failure to thrive, Thrombocytopenia, Umbilical hernia, Neutrop...	OMIM:614520
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Intracranial hemorrhage, H...	ORPHA:163979
Immunodeficiency 32B	Hepatomegaly, Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomega...	OMIM:226990
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Purpura, Hematuria, Petec...	ORPHA:91138
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Leukopenia, T...	ORPHA:292
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen	ORPHA:89844
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Pulmonary arterial hypertension, Hydr...	ORPHA:464738
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly	OMIM:620296
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce...	OMIM:619705
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Viral hepatitis, Failure to thrive, Biliary tract abnormality, Neutropenia	OMIM:209920
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Failure to thrive, Abnormalit...	ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Normochromic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:614857
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:131
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Jaundice	ORPHA:464370
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Splenomegaly, Multi...	ORPHA:567
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:251000
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Failure to thrive, Chronic hepatitis, Thrombocyt...	OMIM:308230
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ...	OMIM:618268
Cyclic Neutropenia	Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Peritonitis, Decreased eosinophil...	ORPHA:2686
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Nephrocalcinosis, ...	ORPHA:264450
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, F...	OMIM:275350
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Elevated...	ORPHA:540
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Urinary incontinence, Abnormal gallbladder morphology	ORPHA:512
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Failure to thrive, Leukopenia, Thrombocytopenia, Hepatic fibrosis,...	OMIM:613989
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Panniculitis, Hepatosplenomegaly, Neutropenia	OMIM:301081
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra...	OMIM:260400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Ascites, Asplenia	OMIM:602361
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Leukopenia, Splenomegaly, Impaired neutrophil b...	OMIM:214500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia...	OMIM:617052
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Neutrophilia,...	ORPHA:293173
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar...	OMIM:254450
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization	OMIM:193235
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Vitreous hemorrhage, Pancreatitis, Splenic cyst, Patent foramen ovale, Retinal hemorrhage, Tricus...	OMIM:620371
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Cholelithiasis	OMIM:213700
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Gray Platelet Syndrome	Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Splenomegaly...	OMIM:139090
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi...	OMIM:216360
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Sple...	OMIM:153670
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Precocious puberty, Hepatosplenomegaly, Cholecystitis	OMIM:301066
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hypotension...	ORPHA:549
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypo...	OMIM:612541
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hematuria, ...	OMIM:192315
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre...	ORPHA:83617
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Abnormal urinar...	ORPHA:90037
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:618641
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating he...	ORPHA:79303
Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hydronephrosis, Absent gallbladder, Atrial septal defect, Ventricula...	OMIM:300712
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob...	OMIM:614377
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251110
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph...	ORPHA:2075
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:520
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal bleedi...	OMIM:614576
Fusariosis	Lung abscess, Panniculitis, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lym...	ORPHA:228119
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Neutropenia	OMIM:618253
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem...	ORPHA:811
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Hypop...	OMIM:188400
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries,...	ORPHA:2869
Cohen Syndrome	Childhood-onset truncal obesity, Leukopenia, Small for gestational age, Neutropenia	OMIM:216550
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Bradycardia, Cardiomegaly, Urinary retention, Abnormal cardiac ...	ORPHA:97297
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Sm...	OMIM:277380
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Prolidase Deficiency	Hepatomegaly, Anemia, Diffuse telangiectasia, Petechiae, Hyperimidodipeptiduria, Prolonged neonat...	OMIM:170100
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Failure to thrive, Thrombocytopenia, Ex...	OMIM:617941
Barth Syndrome	Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia, Neutropenia	OMIM:302060
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Alkaptonuria	Myocardial infarction, Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Hy...	ORPHA:56
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251100
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Infection associated neutropenia, Elevated circulating hepatic transaminase co...	ORPHA:445038
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Leukemia, Hyphema, Vitreous hemorrhage, Pineoblastoma	ORPHA:790
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Neutropenia, Lymphopenia	OMIM:614868
Eales Disease	Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit...	ORPHA:40923
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8...	ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Thrombocytopenia, Leukopenia, Splenomegal...	OMIM:617303
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Decreased body weight, Leukocytosis, Th...	ORPHA:90051
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Neutrophilia, Wei...	ORPHA:54251
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal cyst, Raynaud phenomenon, Lacun...	OMIM:611773
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Cellulitis, Neutrophilia	OMIM:266265
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Q Fever	Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	ORPHA:781
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro...	OMIM:616028
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Neutropenia, Lymphopenia	OMIM:616395
Senior-Boichis Syndrome	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Hypertension, Cholest...	ORPHA:84081
Scrub Typhus	Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Neutropenia	ORPHA:79284
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Tyrosinemia, Type I	Prolonged prothrombin time, Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating he...	OMIM:276700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphop...	ORPHA:508542
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Flexion contracture, Hepatic steatosis, Neutropenia	OMIM:616271
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Peritonitis, Small for gestational age, Neutropenia	ORPHA:391673
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Small for gestat...	OMIM:242900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Cryptorch...	ORPHA:1655
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Immunodeficiency 23	Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet...	OMIM:608233
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the urethra, Ectopic kidney, Hypospadias, Hypoplas...	ORPHA:887
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ...	OMIM:619644
Williams Syndrome	Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Nephrocalcinosis, Multip...	ORPHA:904
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Oligozoospermia, Pulmonary arteria...	ORPHA:3310
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Porta...	ORPHA:228426
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:300842
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi...	ORPHA:79083
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Micropenis, Complete a...	OMIM:617925
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation	OMIM:611134
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Atelis Syndrome 2	Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage	OMIM:620185
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymph...	OMIM:603553
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hydronephrosis, Splenomegaly,...	OMIM:235255
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:600901
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Aortic regurgitation, Polyc...	ORPHA:84064
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Microcytic anemia, Neutropenia	OMIM:251900
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Left ventricular systolic dysfunction, Ele...	ORPHA:273
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Fanconi Anemia, Complementation Group I	Decreased body weight, Neutropenia	OMIM:609053
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Failure to thrive, Elevated circulating hepatic transaminase concentration, Small for gestational...	OMIM:615471
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath...	OMIM:264800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Flexion contracture, Small for gestati...	OMIM:227645
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:613471
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Aortic regurgitation	ORPHA:93474
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Le...	OMIM:267700
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Trisomy 10P	Absent gallbladder, Abnormal heart morphology, Multiple renal cysts, Rectovaginal fistula	ORPHA:171929
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemol...	ORPHA:2330
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	OMIM:615952
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia, Lipodystr...	OMIM:617099
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	OMIM:612387
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613990
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Elevated circulating hepatic transaminase concentration...	ORPHA:319251
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology	OMIM:184705
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Hyphema, Abnormal ...	ORPHA:261552
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni...	OMIM:250250
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Purpura, Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis...	OMIM:620376
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardio...	ORPHA:758
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Abnormal atrial septum morphology, Cholelithiasis	ORPHA:909
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Joint contracture, Neutropenia	OMIM:618005
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Zttk Syndrome	Polyuria, Aortic regurgitation, Unilateral renal agenesis, Absent gallbladder, Atrial septal defe...	OMIM:617140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concent...	OMIM:615688
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Mitral valve calc...	ORPHA:77261
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thrombocytopenia, ...	ORPHA:537
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Urogenital sinus anomaly, Bifid scrotum, Abnormal ren...	ORPHA:96176
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Urinary incontinence, Right axis deviation, Sinus t...	OMIM:232300
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Elevated circu...	OMIM:618329
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Fucosidosis	Cardiomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Abnormal ...	ORPHA:3261
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Common Variable Immunodeficiency	Purpura, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Sp...	ORPHA:1572
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase conce...	OMIM:619525
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditi...	ORPHA:342
Leigh Syndrome	Anemia, Neutropenia, Failure to thrive, Multiple joint contractures, Hepatic failure	ORPHA:506
Cockayne Syndrome Type 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ...	ORPHA:90324
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Transient ischemic attack, Thromb...	ORPHA:1304
Pediatric-Onset Graves Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropenia in p...	ORPHA:525731
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Aortic regurgitation, Hypospadias, Galactosuria, Cholestasis, ...	OMIM:222470
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Small for gestational ag...	OMIM:277400
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Neutroph...	ORPHA:91547
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestationa...	OMIM:227646
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ne...	OMIM:300755
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B...	OMIM:261515
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Enamel hypoplasia, Absence of subcut...	ORPHA:33364
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Khan-Khan-Katsanis Syndrome	Anemia, Corneal scarring, Failure to thrive, Joint contracture, Lymphopenia, Neutropenia	OMIM:618460
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Poly...	OMIM:208500
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, ...	OMIM:210250
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:436159
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Cryptorchidism, Pulmonic stenosis, Bilia...	OMIM:261540
Retinoblastoma	Vitreous hemorrhage, Pinealoma, Leukemia	OMIM:180200
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel...	ORPHA:906
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, Increased hepatic glycogen content, C...	ORPHA:79259
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Failure to thrive, Abnormality of the pancreas, Neutropenia	ORPHA:175
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Vici Syndrome	T lymphocytopenia, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Leukop...	OMIM:242840
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Leukopenia, Splenomegaly, T...	OMIM:222700
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia	OMIM:607944
Whim Syndrome	Cellulitis, Neutropenia, Abnormal neutrophil morphology, Lymphopenia	ORPHA:51636
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Unilateral renal agenesis, ...	OMIM:137920
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase con...	ORPHA:309854
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val...	OMIM:177850
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Hepatocellular carcinoma, Biliary cir...	ORPHA:186
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Elevated circulating hepatic transaminas...	OMIM:269700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Urinary incontinence, Cholecystitis, Orthostatic hypotension due to ...	ORPHA:309271
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	ORPHA:79282
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia	OMIM:232240
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Rothmund-Thomson Syndrome	Aplastic anemia, Anemia, Abnormal dental enamel morphology, Small for gestational age, Leukemia, ...	ORPHA:2909
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myoc...	ORPHA:32960
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Retinal hemorrhage, Eosinop...	OMIM:308300
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Zygomycosis	Fasciitis, Pancreatitis, Neutropenia, Splenic abscess, Peritonitis, Cellulitis, Hepatitis, Brain ...	ORPHA:73263
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Unilateral renal agenesis, Transient ischemic attack, Abnormal heart morphology,...	ORPHA:500150
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Neutropenia	ORPHA:79430
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Anemia, Abnormal dental enamel morphology, Small for gestational age, Leukemia, ...	ORPHA:221008
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card...	OMIM:610717
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi...	ORPHA:91500
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Anemia, Abnormal dental enamel morphology, Small for gestational age, Leukemia, ...	ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Splenomegaly, Failure to thrive in infancy, Abscess	OMIM:612852
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:203700
Revesz Syndrome	Aplastic anemia, Macrocytic anemia, Neutropenia	OMIM:268130
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Cockayne Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis,...	ORPHA:191
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Granulomatosis With Polyangiitis	Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis	OMIM:608710
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr...	ORPHA:331235
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Inguinal hernia, Chronic neutropenia, Camptodactyly, Transient neutrop...	ORPHA:500095
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Ventricular septal defect, Hypop...	ORPHA:436252
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Jaundice, Neutropenia	OMIM:617248
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Transient neutropenia, Inguinal hernia	OMIM:617107
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subdural hemorrhage, Retinal hemorrhage, Chronic kidney disease	ORPHA:25
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ...	ORPHA:51608
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect	OMIM:614653
Familial Drusen	Macular hemorrhage	ORPHA:75376
Sweet Syndrome	Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Leukoc...	ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Neurofibroma	Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland	ORPHA:252183
Aspartylglucosaminuria	Hernia, Vacuolated lymphocytes, Hepatomegaly, Neutropenia	OMIM:208400
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Atrioventricular canal defect, Abnormality of the gallbladder, Hypospadias,...	ORPHA:818
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Hypospadias, Abnormal heart valve morphology, Atrial septal defec...	ORPHA:280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Anemia, Neutr...	ORPHA:95455
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Sponastrime Dysplasia	Small for gestational age, Neutropenia	ORPHA:93357
Pierson Syndrome	Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, S...	OMIM:609049
Trichinellosis	Retinal hemorrhage	ORPHA:863
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a...	OMIM:175780
Sympathetic Ophthalmia	Retinal hemorrhage	ORPHA:79098

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Neurl4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Neurl4.

No publications found that use IMPC mice or data for Neurl4.

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MGI Allele	Allele Type	Produced
Neurl4^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Neurl4^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Neurl4^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Neurl4 MGI:1921092

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Neurl4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data